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Nabsys Advances Electronic Genome Mapping in Cancer Research

Nabsys 2.0, LLC, a leader in Electronic Genome Mapping (EGM) technology, has recently unveiled significant findings from a groundbreaking proof-of-principle study. Conducted by researchers at Augusta University, this study highlights the capabilities of the Nabsys OhmX™ Platform in performing ultra-high-resolution cytogenomic analysis of hematologic malignancies, such as acute myeloid leukemia (AML) and chronic myeloid leukemia (CML).

The published results, now available as a preprint on medRxiv, reveal a remarkable 100% concordance between EGM and traditional cytogenetic techniques, including karyotyping and fluorescence in situ hybridization (FISH). The study evaluated bone marrow aspirate samples that were previously characterized and demonstrated EGM’s ability to detect clinically relevant structural variations and copy number changes, which are critical in evaluating cancer progression and treatment strategies.

Study Overview

The research involved a meticulous analysis of five different hematologic malignancy samples, comprising four AML and one CML. EGM successfully identified all relevant abnormalities highlighted in standard cytogenetic testing and optical genome mapping (OGM). Among these were significant findings such as BCR-ABL1 rearrangements, a multitude of chromosome copy number variations including trisomy 4, trisomy 21, and monosomy 7, alongside various deletions and intricate structural abnormalities.

One remarkable instance featured the EGM’s detection of the KMT2A partial tandem duplication variant, known to be associated with AML—showcasing its precision in identifying smaller yet critical mutations that may impact patient outcomes. Notably, in a complex AML specimen, EGM excelled in identifying both structural changes and copy number variations that went beyond traditional karyotyping and FISH methodologies, thus emphasizing the superior capabilities of EGM.

Expert Insights

Dr. Ravindra Kolhe, the study lead from Augusta University, expressed his enthusiasm regarding the findings. Having a wealth of expertise in genome mapping for hematologic conditions, he pointed out the effectiveness of EGM in identifying critical genomic abnormalities while providing additional structural insights in complicated cases. This initial study serves as a beacon of opportunity for future investigations involving larger and more diverse patient cohorts, emphasizing the need for further evaluation of EGM!

Barrett Bready, M.D. and founder of Nabsys, articulated his excitement over the study’s publication, highlighting its significance to both clinical practices and research. “Genome mapping is an essential tool for modern cytogenomics and molecular genetics. This study’s findings confirm the complete agreement of EGM with traditional methods, paving the way for continued innovation in the detection of genomic abnormalities,” he stated.

The OhmX™ Platform

The Nabsys OhmX Platform distinguishes itself by taking advantage of electronic detection methods, combining nanofluidics and computational biology to provide insights into DNA structures. This advanced approach addresses limitations faced by traditional genome mapping systems that depend on optical methods featuring lasers and cameras. The streamlined, compact design of the OhmX Platform effectively captures high-resolution data—advancing the field of genetic research significantly.

The publication, titled “Electronic Genome Mapping Enables High-Resolution Cytogenomic Profiling of Hematologic Malignancies: A Proof-of-Principle Study,” stands as a pivotal advancement in the potential for EGM technologies to offer new levels of accuracy in genome analysis.

As these findings emerge, the medical and scientific communities are encouraged to consider the implications of integrating EGM into routine clinical and research practices, aiming for improved patient care outcomes and enhanced understanding of hematologic malignancies.

The OhmX Platform is currently available for research use internationally, heralding a new era in genomic research and analysis. For those looking to delve deeper, the full study can be accessed at: medRxiv.